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What are the signs and symptoms of Shwachman-Diamond syndrome?

Shwachman-Diamond syndrome is typically characterized by signs of insufficient absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency) and improper functioning of the bone marrow (bone marrow dysfunction), resulting in low levels of circulating blood cells (hematologic abnormalities). Additional characteristic findings may include short stature; abnormal bone development affecting the rib cage and/or bones in the arms and/or legs (metaphyseal dysostosis); and/or liver abnormalities.[1]

As a result of the bone marrow dysfunction, individuals with Shwachman-Diamond syndrome have a higher-than-average chance of developing myelodysplastic syndrome (MDS) and aplastic anemia, which are disorders that affect blood cell production, and a cancer of blood-forming tissue known as acute myeloid leukemia (AML).[2]

Last updated: 9/17/2010

The Human Phenotype Ontology provides the following list of signs and symptoms for Shwachman-Diamond syndrome.
If the information is available, the table below includes how often the symptom is seen in people with this condition.
You can use the MedlinePlus Medical Dictionary to look up
the definitions for these medical terms.

Signs and Symptoms

Approximate number of patients (when available)

Exocrine pancreatic insufficiency

90%

Cognitive impairment

50%

Delayed skeletal maturation

50%

Eczema

50%

Ichthyosis

50%

Macrocytic anemia

50%

Reduced bone mineral density

50%

Short stature

50%

Thrombocytopenia

50%

Bone marrow hypocellularity

7.5%

Carious teeth

7.5%

Gait disturbance

7.5%

Hepatomegaly

7.5%

Microdontia

7.5%

Pectus carinatum

7.5%

Scoliosis

7.5%

Short thorax

7.5%

Type I diabetes mellitus

7.5%

Acute myeloid leukemia

-

Autosomal recessive inheritance

-

Coxa vara

-

Elevated hepatic transaminases

-

Enlargement of the costochondral junction

-

Failure to thrive

-

Intellectual disability, mild

-

Irregular ossification at anterior rib ends

-

Metaphyseal chondrodysplasia

-

Myelodysplasia

-

Myocardial necrosis

-

Narrow chest

-

Narrow sacroiliac notch

-

Neonatal respiratory distress

-

Nephrocalcinosis

-

Neutropenia

-

Ovoid vertebral bodies

-

Pancytopenia

-

Persistence of hemoglobin F

-

Proximal femoral epiphysiolysis

-

Recurrent infections

-

Small for gestational age

-

Specific learning disability

-

Steatorrhea

-

Last updated: 3/1/2015

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.